ClinVar Miner

Submissions for variant NM_134261.3(RORA):c.1498C>T (p.Arg500Ter)

dbSNP: rs1555421544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000677292 SCV000803425 pathogenic not provided 2018-06-21-05:00 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000677292 SCV003917392 pathogenic not provided 2023-01-01 criteria provided, single submitter clinical testing RORA: PS2, PVS1:Strong, PM2
GeneDx RCV000677292 SCV003936576 pathogenic not provided 2024-05-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 24 amino acids are lost, and other loss-of-function variants have been reported downstream in GDX; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29656859, 33149276)

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